Njølstad, Pål R.

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

Gloyn, A. L., Pearson, E. R., Antcliff, J. F., Proks, P., Bruining, G. J., Slingerland, A. S., Howard, N., Srinivasan, S., Silva, J. M. C. L., Molnes, J., et al. (2004) · New England Journal of Medicine

Pancreatic function and diabetesIon channel regulation and function

Cited by 1,137

The genetic architecture of type 2 diabetes

Fuchsberger, C., Flannick, J., Teslovich, T. M., Mahajan, A., Agarwala, V., Gaulton, K. J., Ma, C., Fontanillas, P., Moutsianas, L., McCarthy, D. J., et al. (2016) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,051

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations

Pearson, E. R., Flechtner, I., Njølstad, P. R., Malecki, M. T., Flanagan, S. E., Larkin, B., Ashcroft, F. M., Klimes, I., Codner, E., Iotova, V., et al. (2006) · New England Journal of Medicine

Pancreatic function and diabetesIon channel regulation and function

Cited by 988

Rare and low-frequency coding variants alter human adult height

Marouli, E., Graff, M., Medina-Gomez, C., Lo, K. S., Wood, A. R., Kjaer, T. R., Fine, R. S., Lu, Y., Schurmann, C., Highland, H. M., et al. (2017) · Nature

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 610

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

Go-T2D Consortium, Flannick, J., T2D-GENES Consortium, Thorleifsson, G., Beer, N. L., Jacobs, S. B. R., Grarup, N., Burtt, N. P., Mahajan, A., Fuchsberger, C., et al. (2014) · Nature Genetics

Genetic Associations and EpidemiologyDiabetes and associated disorders

Cited by 492

ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

Hattersley, A. T., Greeley, S. A. W., Polak, M., Rubio-Cabezas, O., Njølstad, P. R., Mlynarski, W., Castano, L., Carlsson, A., Raile, K., Chi, D. V., et al. (2018) · Pediatric Diabetes

Diabetes and associated disordersDiabetes Management and Research

Cited by 319

Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population

Estrada, K., Aukrust, I., Bjørkhaug, L., Burtt, N. P., Mercader, J. M., García-Ortiz, H., Huerta-Chagoya, A., Moreno-Macías, H., Walford, G., Flannick, J., et al. (2014) · JAMA

Genetic Associations and EpidemiologyDiabetes and associated disorders

Cited by 259

A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1

Johnson, D., Horsley, S. W., Moloney, D. M., Oldridge, M., Twigg, S. R. F., Walsh, S., Barrow, M., Njølstad, P. R., Kunz, J., Ashworth, G. J., et al. (1998) · The American Journal of Human Genetics

Craniofacial Disorders and TreatmentsGenomic variations and chromosomal abnormalities

Cited by 230

ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents

Greeley, S. A. W., Polak, M., Njølstad, P. R., Barbetti, F., Williams, R., Castano, L., Raile, K., Chi, D. V., Habeb, A., Hattersley, A. T., et al. (2022) · Pediatric Diabetes

Diabetes and associated disordersPancreatic function and diabetes

Cited by 211

Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX , SOX4 , and IRX3

Ragvin, A., Moro, E., Fredman, D., Navratilova, P., Drivenes, Ø., Engström, P. G., Alonso, M. E., Mustienes, E. D. L. C., Skarmeta, J. L. G., Tavares, M. J., et al. (2010) · Proceedings of the National Academy of Sciences

Genomics and Chromatin DynamicsPancreatic function and diabetes

Cited by 211

The diagnosis and management of monogenic diabetes in children and adolescents

Rubio-Cabezas, O., Hattersley, A. T., Njølstad, P. R., Mlynarski, W., Ellard, S., White, N., Chi, D. V., & Craig, M. E. (2014) · Pediatric Diabetes

Diabetes and associated disordersPancreatic function and diabetes

Cited by 196

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

Flannick, J., Beer, N. L., Bick, A. G., Agarwala, V., Molnes, J., Gupta, N., Burtt, N. P., Florez, J. C., Meigs, J. B., Taylor, H., et al. (2013) · Nature Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 136

Causes of death in childhood‐onset Type 1 diabetes: long‐term follow‐up

Gagnum, V., Stene, L. C., Jenssen, T. G., Berteussen, L. M., Sandvik, L., Joner, G., Njølstad, P. R., & Skrivarhaug, T. (2017) · Diabetic Medicine

Diabetes Management and ResearchDiabetes and associated disorders

Cited by 87

Effective interventions in preventing gestational diabetes mellitus: A systematic review and meta-analysis

Takele, W. W., Vesco, K. K., Josefson, J., Redman, L. M., Hannah, W., Bonham, M. P., Chen, M., Chivers, S. C., Fawcett, A. J., Grieger, J. A., et al. (2024) · Communications Medicine

Gestational Diabetes Research and ManagementDiabetes, Cardiovascular Risks, and Lipoproteins

Cited by 55

Does Current Diabetes Technology Improve Metabolic Control? A Cross-Sectional Study on the Use of Insulin Pumps and Continuous Glucose Monitoring Devices in a Nationwide Pediatric Population

Bratke, H., Margeirsdottir, H. D., Assmus, J., Njølstad, P. R., & Skrivarhaug, T. (2021) · Diabetes Therapy

Diabetes Management and ResearchDiabetes Management and Education

Cited by 20

Structural properties of the HNF-1A transactivation domain

Kind, L., Driver, M., Raasakka, A., Onck, P. R., Njølstad, P. R., Arnesen, T., & Kursula, P. (2023) · Frontiers in Molecular Biosciences

Protein Structure and DynamicsGenomics and Chromatin Dynamics

Cited by 10

Structural properties of the HNF-1A transactivation domain

Kind, L., Driver, M., Raasakka, A., Onck, P. R., Njølstad, P. R., Arnesen, T., & Kursula, P. (2023) · Frontiers in Molecular Biosciences

Protein Structure and DynamicsGenomics and Chromatin Dynamics

Cited by 10